Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1

Summary

An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells from a 27-month-old boy with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations (c.940T>C(p.W314R) and c.10163C>T(p.P3388L)) in DYNC2H1. The iPSCs have a normal karyotype, and express pluripotency markers and bear differentiation potential in vitro. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Ma Y, Song F, Yang X, Li Y, Guan J, Lv Y, Gao M, Ma J, Liu Y, Gai Z
Journal Stem cell research
Publication Date 2019 Aug;39:101505
PubMed 31415973
DOI 10.1016/j.scr.2019.101505

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Cell Lines